Variant Details

Variant: nsv442859

Internal ID

15154892

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:46760327..46807791	hg38	UCSC Ensembl
Inner	chr3:46801817..46849281	hg19	UCSC Ensembl
Inner	chr3:46776821..46824285	hg18	UCSC Ensembl
Inner	chr3:46776821..46824285	hg17	UCSC Ensembl

Cytoband

3p21.31

Allele length

Assembly	Allele length
hg38	47465
hg19	47465
hg18	47465
hg17	47465

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1622821, nssv1622197, nssv1622529, nssv1622416, nssv1623207, nssv1621798, nssv1621914, nssv1622598, nssv1622507, nssv1622947, nssv1622295, nssv1622405, nssv1621987, nssv1622595, nssv1622581, nssv1622078, nssv1622627, nssv1623162, nssv1623063, nssv1622313, nssv1622747, nssv1623243, nssv1621997, nssv1622959, nssv1623238, nssv1622696, nssv1623151, nssv1621851, nssv1621702, nssv1622932, nssv1622212, nssv1622584, nssv1623053, nssv1623247, nssv1622021, nssv1622196, nssv1622404, nssv1621893, nssv1621909, nssv1622643, nssv1622728, nssv1621854, nssv1621960, nssv1622028, nssv1621763, nssv1622930, nssv1622495, nssv1623152, nssv1621973, nssv1623156, nssv1622491, nssv1622270, nssv1622838, nssv1622092, nssv1622137, nssv1622931, nssv1623273, nssv1621712, nssv1621894, nssv1622125, nssv1621928, nssv1622532, nssv1622454, nssv1623058, nssv1623041, nssv1623026, nssv1622733, nssv1622490, nssv1623132, nssv1622216, nssv1623131, nssv1623237, nssv1622641, nssv1623079, nssv1622948

Samples

NA18502, NA19222, NA19203, NA19204, NA18862, NA18861, NA18855, NA18507, NA19145, NA19092, NA19098, NA19127, NA19192, NA19171, NA19201, NA18860, NA19138, NA19130, NA19137, NA19238, NA19207, NA19172, NA19128, NA19159, NA19239, NA19209, NA19200, NA19210, NA19194, NA12003, NA19152, NA18859, NA19205, NA18871, NA19103, NA18503, NA10838, NA19208, NA19221, NA19142, NA18912, NA19154, NA18857, NA18853, NA19099, NA19101, NA18523, NA19094, NA18914, NA19206, NA18517, NA18863, NA19140, NA18913, NA19240, NA19100, NA19144, NA19193, NA19143, NA18501, NA19223, NA19173, NA19093, NA18521, NA18500, NA18506, NA18854, NA18872, NA18852, NA18505, NA19129, NA19139, NA18522, NA07034, NA19153

Known Genes

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442859

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	75
Observed Complex	0
Frequency	n/a